Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.50192298A>G | CA2555700559 | AKAP4 | c.2409+6T>C (n.2409+6T>C) c.2382+6T>C (n.2382+6T>C) n.2521+6T>C | gnomAD v4 |
X | g.50192299C>A | CA2693739762 | AKAP4 | c.2409+5G>T (n.2409+5G>T) c.2382+5G>T (n.2382+5G>T) n.2521+5G>T | gnomAD v4 |
X | g.50192299C>G | CA2693739763 | AKAP4 | c.2409+5G>C (n.2409+5G>C) c.2382+5G>C (n.2382+5G>C) n.2521+5G>C | gnomAD v4 |
X | g.50192299_50192310del | CA2820861752 | AKAP4 | c.2403_2409+5del c.2376_2382+5del n.2515_2521+5del | |
X | g.50192302A>C | CA413187099 | AKAP4 | c.2409+2T>G (n.2409+2T>G) c.2382+2T>G (n.2382+2T>G) n.2521+2T>G | |
X | g.50192302A>G | CA413187095 | AKAP4 | c.2409+2T>C (n.2409+2T>C) c.2382+2T>C (n.2382+2T>C) n.2521+2T>C | |
X | g.50192302A>T | CA413187097 | AKAP4 | c.2409+2T>A (n.2409+2T>A) c.2382+2T>A (n.2382+2T>A) n.2521+2T>A | |
X | g.50192303C>A | CA413187101 | AKAP4 | c.2409+1G>T (n.2409+1G>T) c.2382+1G>T (n.2382+1G>T) n.2521+1G>T | |
X | g.50192303C>G | CA413187103 | AKAP4 | c.2409+1G>C (n.2409+1G>C) c.2382+1G>C (n.2382+1G>C) n.2521+1G>C | |
X | g.50192303C>T | CA413187105 | AKAP4 | c.2409+1G>A (n.2409+1G>A) c.2382+1G>A (n.2382+1G>A) n.2521+1G>A | |
X | g.50192304C>A | CA413187107 | AKAP4 | c.2409G>T (p.Lys803Asn) c.2382G>T (p.Lys794Asn) n.2521G>T | gnomAD v4 |
X | g.50192304C>G | CA413187109 | AKAP4 | c.2409G>C (p.Lys803Asn) c.2382G>C (p.Lys794Asn) n.2521G>C | |
X | g.50192304C>T | CA516471552 | AKAP4 | c.2409G>A (p.Lys803=) c.2382G>A (p.Lys794=) n.2521G>A | |
X | g.50192305T>A | CA413187111 | AKAP4 | c.2408A>T (p.Lys803Met) c.2381A>T (p.Lys794Met) n.2520A>T | |
X | g.50192305T>C | CA413187113 | AKAP4 | c.2408A>G (p.Lys803Arg) c.2381A>G (p.Lys794Arg) n.2520A>G | gnomAD v4 |
X | g.50192305T>G | CA413187115 | AKAP4 | c.2408A>C (p.Lys803Thr) c.2381A>C (p.Lys794Thr) n.2520A>C | |
X | g.50192308del | CA2553670661 | AKAP4 | c.2408del (p.Lys803SerfsTer16) c.2381del (p.Lys794SerfsTer16) n.2520del | |
X | g.50192306T>A | CA413187117 | AKAP4 | c.2407A>T (p.Lys803Ter) c.2380A>T (p.Lys794Ter) n.2519A>T | |
X | g.50192306T>C | CA413187119 | AKAP4 | c.2407A>G (p.Lys803Glu) c.2380A>G (p.Lys794Glu) n.2519A>G | |
X | g.50192306T>G | CA413187121 | AKAP4 | c.2407A>C (p.Lys803Gln) c.2380A>C (p.Lys794Gln) n.2519A>C | |
X | g.50192307T>A | CA413187125 | AKAP4 | c.2406A>T (p.Glu802Asp) c.2379A>T (p.Glu793Asp) n.2518A>T | |
X | g.50192307T>C | CA516471556 | AKAP4 | c.2406A>G (p.Glu802=) c.2379A>G (p.Glu793=) n.2518A>G | |
X | g.50192307T>G | CA413187123 | AKAP4 | c.2406A>C (p.Glu802Asp) c.2379A>C (p.Glu793Asp) n.2518A>C | |
X | g.50192308T>A | CA413187127 | AKAP4 | c.2405A>T (p.Glu802Val) c.2378A>T (p.Glu793Val) n.2517A>T | |
X | g.50192308T>C | CA413187129 | AKAP4 | c.2405A>G (p.Glu802Gly) c.2378A>G (p.Glu793Gly) n.2517A>G | |
X | g.50192308T>G | CA413187131 | AKAP4 | c.2405A>C (p.Glu802Ala) c.2378A>C (p.Glu793Ala) n.2517A>C | |
X | g.50192308_50192309insGACAAA | CA2508490180 | AKAP4 | c.2404_2405insTTTGTC (p.Glu802delinsValCysGln) c.2377_2378insTTTGTC (p.Glu793delinsValCysGln) n.2516_2517insTTTGTC | |
X | g.50192309C>A | CA413187133 | AKAP4 | c.2404G>T (p.Glu802Ter) c.2377G>T (p.Glu793Ter) n.2516G>T | |
X | g.50192309C>G | CA413187135 | AKAP4 | c.2404G>C (p.Glu802Gln) c.2377G>C (p.Glu793Gln) n.2516G>C | |
X | g.50192309C>T | CA413187137 | AKAP4 | c.2404G>A (p.Glu802Lys) c.2377G>A (p.Glu793Lys) n.2516G>A | gnomAD v4 |
X | g.50192310C>A | CA516471558 | AKAP4 | c.2403G>T (p.Leu801=) c.2376G>T (p.Leu792=) n.2515G>T | |
X | g.50192310C= | CA2428802708 | AKAP4 | c.2403G= (p.Leu801=) c.2376G= (p.Leu792=) n.2515G= | |
X | g.50192310C>G | CA516471559 | AKAP4 | c.2403G>C (p.Leu801=) c.2376G>C (p.Leu792=) n.2515G>C | |
X | g.50192310C>T | CA516471560 | AKAP4 | c.2403G>A (p.Leu801=) c.2376G>A (p.Leu792=) n.2515G>A | dbSNP |
X | g.50192311A>C | CA413187139 | AKAP4 | c.2402T>G (p.Leu801Arg) c.2375T>G (p.Leu792Arg) n.2514T>G | |
X | g.50192311A>G | CA413187141 | AKAP4 | c.2402T>C (p.Leu801Pro) c.2375T>C (p.Leu792Pro) n.2514T>C | gnomAD v4 |
X | g.50192311A>T | CA413187143 | AKAP4 | c.2402T>A (p.Leu801Gln) c.2375T>A (p.Leu792Gln) n.2514T>A | |
X | g.50192312G>A | CA516471562 | AKAP4 | c.2401C>T (p.Leu801=) c.2374C>T (p.Leu792=) n.2513C>T | |
X | g.50192312G>C | CA413187145 | AKAP4 | c.2401C>G (p.Leu801Val) c.2374C>G (p.Leu792Val) n.2513C>G | |
X | g.50192312G>T | CA413187147 | AKAP4 | c.2401C>A (p.Leu801Met) c.2374C>A (p.Leu792Met) n.2513C>A | |
X | g.50192313T>A | CA413187149 | AKAP4 | c.2400A>T (p.Gln800His) c.2373A>T (p.Gln791His) n.2512A>T | |
X | g.50192313T>C | CA516471563 | AKAP4 | c.2400A>G (p.Gln800=) c.2373A>G (p.Gln791=) n.2512A>G | |
X | g.50192313T>G | CA413187151 | AKAP4 | c.2400A>C (p.Gln800His) c.2373A>C (p.Gln791His) n.2512A>C | |
X | g.50192313_50192314del | CA2820861753 | AKAP4 | c.2399_2400del (p.Gln800ProfsTer10) c.2372_2373del (p.Gln791ProfsTer10) n.2511_2512del | |
X | g.50192314T>A | CA413187155 | AKAP4 | c.2399A>T (p.Gln800Leu) c.2372A>T (p.Gln791Leu) n.2511A>T | |
X | g.50192314T>C | CA413187157 | AKAP4 | c.2399A>G (p.Gln800Arg) c.2372A>G (p.Gln791Arg) n.2511A>G | |
X | g.50192314T>G | CA413187153 | AKAP4 | c.2399A>C (p.Gln800Pro) c.2372A>C (p.Gln791Pro) n.2511A>C | |
X | g.50192315G>A | CA413187161 | AKAP4 | c.2398C>T (p.Gln800Ter) c.2371C>T (p.Gln791Ter) n.2510C>T | gnomAD v4 |
X | g.50192315G>C | CA413187159 | AKAP4 | c.2398C>G (p.Gln800Glu) c.2371C>G (p.Gln791Glu) n.2510C>G | |
X | g.50192315G>T | CA413187163 | AKAP4 | c.2398C>A (p.Gln800Lys) c.2371C>A (p.Gln791Lys) n.2510C>A | |
X | g.50192316T>A | CA516471565 | AKAP4 | c.2397A>T (p.Gly799=) c.2370A>T (p.Gly790=) n.2509A>T | |
X | g.50192316T>C | CA516471566 | AKAP4 | c.2397A>G (p.Gly799=) c.2370A>G (p.Gly790=) n.2509A>G | |
X | g.50192316T>G | CA516471567 | AKAP4 | c.2397A>C (p.Gly799=) c.2370A>C (p.Gly790=) n.2509A>C | |
X | g.50192316_50192317del | CA2820861754 | AKAP4 | c.2396_2397del (p.Gly799AlafsTer11) c.2369_2370del (p.Gly790AlafsTer11) n.2508_2509del | |
X | g.50192317C>A | CA413187165 | AKAP4 | c.2396G>T (p.Gly799Val) c.2369G>T (p.Gly790Val) n.2508G>T | gnomAD v4 |
X | g.50192317C= | CA2428802709 | AKAP4 | c.2396G= (p.Gly799=) c.2369G= (p.Gly790=) n.2508G= | |
X | g.50192317C>G | CA413187169 | AKAP4 | c.2396G>C (p.Gly799Ala) c.2369G>C (p.Gly790Ala) n.2508G>C | |
X | g.50192317C>T | CA413187167 | AKAP4 | c.2396G>A (p.Gly799Glu) c.2369G>A (p.Gly790Glu) n.2508G>A | dbSNP gnomAD v4 |
X | g.50192318C>A | CA413187171 | AKAP4 | c.2395G>T (p.Gly799Ter) c.2368G>T (p.Gly790Ter) n.2507G>T | |
X | g.50192318C>G | CA413187173 | AKAP4 | c.2395G>C (p.Gly799Arg) c.2368G>C (p.Gly790Arg) n.2507G>C | |
X | g.50192318C>T | CA413187175 | AKAP4 | c.2395G>A (p.Gly799Arg) c.2368G>A (p.Gly790Arg) n.2507G>A | |
X | g.50192319A>C | CA413187176 | AKAP4 | c.2394T>G (p.Asp798Glu) c.2367T>G (p.Asp789Glu) n.2506T>G | |
X | g.50192319A>G | CA516471570 | AKAP4 | c.2394T>C (p.Asp798=) c.2367T>C (p.Asp789=) n.2506T>C | gnomAD v4 |
X | g.50192319A>T | CA413187178 | AKAP4 | c.2394T>A (p.Asp798Glu) c.2367T>A (p.Asp789Glu) n.2506T>A | |
X | g.50192320T>A | CA413187181 | AKAP4 | c.2393A>T (p.Asp798Val) c.2366A>T (p.Asp789Val) n.2505A>T | dbSNP gnomAD v3 gnomAD v4 |
X | g.50192320T>C | CA413187182 | AKAP4 | c.2393A>G (p.Asp798Gly) c.2366A>G (p.Asp789Gly) n.2505A>G | dbSNP |
X | g.50192320T>G | CA413187184 | AKAP4 | c.2393A>C (p.Asp798Ala) c.2366A>C (p.Asp789Ala) n.2505A>C | |
X | g.50192320T= | CA2428802710 | AKAP4 | c.2393A= (p.Asp798=) c.2366A= (p.Asp789=) n.2505A= | |
X | g.50192320_50192330del | CA2820861755 | AKAP4 | c.2383_2393del (p.Gly795TrpfsTer12) c.2356_2366del (p.Gly786TrpfsTer12) n.2495_2505del | |
X | g.50192321C>A | CA413187187 | AKAP4 | c.2392G>T (p.Asp798Tyr) c.2365G>T (p.Asp789Tyr) n.2504G>T | dbSNP gnomAD v2 gnomAD v4 |
X | g.50192321C= | CA2428802711 | AKAP4 | c.2392G= (p.Asp798=) c.2365G= (p.Asp789=) n.2504G= | |
X | g.50192321C>G | CA413187188 | AKAP4 | c.2392G>C (p.Asp798His) c.2365G>C (p.Asp789His) n.2504G>C | |
X | g.50192321C>T | CA413187190 | AKAP4 | c.2392G>A (p.Asp798Asn) c.2365G>A (p.Asp789Asn) n.2504G>A | |
X | g.50192322C>A | CA413187194 | AKAP4 | c.2391G>T (p.Lys797Asn) c.2364G>T (p.Lys788Asn) n.2503G>T | |
X | g.50192322C>G | CA413187193 | AKAP4 | c.2391G>C (p.Lys797Asn) c.2364G>C (p.Lys788Asn) n.2503G>C | |
X | g.50192322C>T | CA516471572 | AKAP4 | c.2391G>A (p.Lys797=) c.2364G>A (p.Lys788=) n.2503G>A | |
X | g.50192323T>A | CA413187196 | AKAP4 | c.2390A>T (p.Lys797Met) c.2363A>T (p.Lys788Met) n.2502A>T | |
X | g.50192323T>C | CA413187198 | AKAP4 | c.2390A>G (p.Lys797Arg) c.2363A>G (p.Lys788Arg) n.2502A>G | gnomAD v4 |
X | g.50192323T>G | CA413187200 | AKAP4 | c.2390A>C (p.Lys797Thr) c.2363A>C (p.Lys788Thr) n.2502A>C | |
X | g.50192324T>A | CA413187202 | AKAP4 | c.2389A>T (p.Lys797Ter) c.2362A>T (p.Lys788Ter) n.2501A>T | |
X | g.50192324T>C | CA413187204 | AKAP4 | c.2389A>G (p.Lys797Glu) c.2362A>G (p.Lys788Glu) n.2501A>G | dbSNP |
X | g.50192324T>G | CA413187206 | AKAP4 | c.2389A>C (p.Lys797Gln) c.2362A>C (p.Lys788Gln) n.2501A>C | |
X | g.50192324T= | CA2428802712 | AKAP4 | c.2389A= (p.Lys797=) c.2362A= (p.Lys788=) n.2501A= | |
X | g.50192325A= | CA2428802713 | AKAP4 | c.2388T= (p.Asp796=) c.2361T= (p.Asp787=) n.2500T= | |
X | g.50192325A>C | CA413187208 | AKAP4 | c.2388T>G (p.Asp796Glu) c.2361T>G (p.Asp787Glu) n.2500T>G | |
X | g.50192325A>G | CA10414113 | AKAP4 | c.2388T>C (p.Asp796=) c.2361T>C (p.Asp787=) n.2500T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.50192325A>T | CA413187211 | AKAP4 | c.2388T>A (p.Asp796Glu) c.2361T>A (p.Asp787Glu) n.2500T>A | COSMIC |
X | g.50192326T>A | CA413187213 | AKAP4 | c.2387A>T (p.Asp796Val) c.2360A>T (p.Asp787Val) n.2499A>T | |
X | g.50192326T>C | CA413187215 | AKAP4 | c.2387A>G (p.Asp796Gly) c.2360A>G (p.Asp787Gly) n.2499A>G | |
X | g.50192326T>G | CA413187217 | AKAP4 | c.2387A>C (p.Asp796Ala) c.2360A>C (p.Asp787Ala) n.2499A>C | |
X | g.50192327C>A | CA413187221 | AKAP4 | c.2386G>T (p.Asp796Tyr) c.2359G>T (p.Asp787Tyr) n.2498G>T | gnomAD v4 |
X | g.50192327C>G | CA413187223 | AKAP4 | c.2386G>C (p.Asp796His) c.2359G>C (p.Asp787His) n.2498G>C | |
X | g.50192327C>T | CA413187219 | AKAP4 | c.2386G>A (p.Asp796Asn) c.2359G>A (p.Asp787Asn) n.2498G>A | gnomAD v4 |
X | g.50192328T>A | CA516471576 | AKAP4 | c.2385A>T (p.Gly795=) c.2358A>T (p.Gly786=) n.2497A>T | dbSNP gnomAD v3 gnomAD v4 |
X | g.50192328T>C | CA516471577 | AKAP4 | c.2385A>G (p.Gly795=) c.2358A>G (p.Gly786=) n.2497A>G | |
X | g.50192328T>G | CA516471578 | AKAP4 | c.2385A>C (p.Gly795=) c.2358A>C (p.Gly786=) n.2497A>C | |
X | g.50192328T= | CA2428802714 | AKAP4 | c.2385A= (p.Gly795=) c.2358A= (p.Gly786=) n.2497A= | |
X | g.50192329C>A | CA413187225 | AKAP4 | c.2384G>T (p.Gly795Val) c.2357G>T (p.Gly786Val) n.2496G>T | |
X | g.50192329C>G | CA413187227 | AKAP4 | c.2384G>C (p.Gly795Ala) c.2357G>C (p.Gly786Ala) n.2496G>C | gnomAD v4 |
X | g.50192329C>T | CA413187229 | AKAP4 | c.2384G>A (p.Gly795Glu) c.2357G>A (p.Gly786Glu) n.2496G>A | |
X | g.50192330C>A | CA413187231 | AKAP4 | c.2383G>T (p.Gly795Ter) c.2356G>T (p.Gly786Ter) n.2495G>T | gnomAD v4 COSMIC |
X | g.50192330C= | CA2428802715 | AKAP4 | c.2383G= (p.Gly795=) c.2356G= (p.Gly786=) n.2495G= | |
X | g.50192330C>G | CA10414114 | AKAP4 | c.2383G>C (p.Gly795Arg) c.2356G>C (p.Gly786Arg) n.2495G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.50192330C>T | CA413187233 | AKAP4 | c.2383G>A (p.Gly795Arg) c.2356G>A (p.Gly786Arg) n.2495G>A | dbSNP gnomAD v2 |
X | g.50192331C>A | CA413187236 | AKAP4 | c.2382G>T (p.Met794Ile) c.2355G>T (p.Met785Ile) n.2494G>T | |
X | g.50192331C>G | CA413187238 | AKAP4 | c.2382G>C (p.Met794Ile) c.2355G>C (p.Met785Ile) n.2494G>C | |
X | g.50192331C>T | CA413187239 | AKAP4 | c.2382G>A (p.Met794Ile) c.2355G>A (p.Met785Ile) n.2494G>A | |
X | g.50192332A>C | CA413187242 | AKAP4 | c.2381T>G (p.Met794Arg) c.2354T>G (p.Met785Arg) n.2493T>G | |
X | g.50192332A>G | CA413187244 | AKAP4 | c.2381T>C (p.Met794Thr) c.2354T>C (p.Met785Thr) n.2493T>C | |
X | g.50192332A>T | CA413187245 | AKAP4 | c.2381T>A (p.Met794Lys) c.2354T>A (p.Met785Lys) n.2493T>A | |
X | g.50192333T>A | CA413187250 | AKAP4 | c.2380A>T (p.Met794Leu) c.2353A>T (p.Met785Leu) n.2492A>T | |
X | g.50192333T>C | CA413187251 | AKAP4 | c.2380A>G (p.Met794Val) c.2353A>G (p.Met785Val) n.2492A>G | gnomAD v4 |
X | g.50192333T>G | CA413187248 | AKAP4 | c.2380A>C (p.Met794Leu) c.2353A>C (p.Met785Leu) n.2492A>C | |
X | g.50192334G>A | CA516471583 | AKAP4 | c.2379C>T (p.Phe793=) c.2352C>T (p.Phe784=) n.2491C>T | |
X | g.50192334G>C | CA413187254 | AKAP4 | c.2379C>G (p.Phe793Leu) c.2352C>G (p.Phe784Leu) n.2491C>G | |
X | g.50192334G>T | CA413187256 | AKAP4 | c.2379C>A (p.Phe793Leu) c.2352C>A (p.Phe784Leu) n.2491C>A | gnomAD v4 |
X | g.50192335A>C | CA413187258 | AKAP4 | c.2378T>G (p.Phe793Cys) c.2351T>G (p.Phe784Cys) n.2490T>G | |
X | g.50192335A>G | CA413187260 | AKAP4 | c.2378T>C (p.Phe793Ser) c.2351T>C (p.Phe784Ser) n.2490T>C | |
X | g.50192335A>T | CA413187261 | AKAP4 | c.2378T>A (p.Phe793Tyr) c.2351T>A (p.Phe784Tyr) n.2490T>A | |
X | g.50192336A= | CA2428802716 | AKAP4 | c.2377T= (p.Phe793=) c.2350T= (p.Phe784=) n.2489T= | |
X | g.50192336A>C | CA413187267 | AKAP4 | c.2377T>G (p.Phe793Val) c.2350T>G (p.Phe784Val) n.2489T>G | |
X | g.50192336A>G | CA10414115 | AKAP4 | c.2377T>C (p.Phe793Leu) c.2350T>C (p.Phe784Leu) n.2489T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.50192336A>T | CA413187265 | AKAP4 | c.2377T>A (p.Phe793Ile) c.2350T>A (p.Phe784Ile) n.2489T>A | |
X | g.50192337G>A | CA516679131 | AKAP4 | c.2376C>T (p.Tyr792=) c.2349C>T (p.Tyr783=) n.2488C>T | |
X | g.50192337G>C | CA413187269 | AKAP4 | c.2376C>G (p.Tyr792Ter) c.2349C>G (p.Tyr783Ter) n.2488C>G | |
X | g.50192337G>T | CA413187271 | AKAP4 | c.2376C>A (p.Tyr792Ter) c.2349C>A (p.Tyr783Ter) n.2488C>A | gnomAD v4 |
X | g.50192337_50192338insAAAGT | CA2820861759 | AKAP4 | c.2375_2376insACTTT (p.Tyr792Ter) c.2348_2349insACTTT (p.Tyr783Ter) n.2487_2488insACTTT | |
X | g.50192338T>A | CA413187273 | AKAP4 | c.2375A>T (p.Tyr792Phe) c.2348A>T (p.Tyr783Phe) n.2487A>T | |
X | g.50192338T>C | CA413187275 | AKAP4 | c.2375A>G (p.Tyr792Cys) c.2348A>G (p.Tyr783Cys) n.2487A>G | |
X | g.50192338T>G | CA413187276 | AKAP4 | c.2375A>C (p.Tyr792Ser) c.2348A>C (p.Tyr783Ser) n.2487A>C | |
X | g.50192339A>C | CA413187282 | AKAP4 | c.2374T>G (p.Tyr792Asp) c.2347T>G (p.Tyr783Asp) n.2486T>G | |
X | g.50192339A>G | CA413187281 | AKAP4 | c.2374T>C (p.Tyr792His) c.2347T>C (p.Tyr783His) n.2486T>C | gnomAD v4 |
X | g.50192339A>T | CA413187279 | AKAP4 | c.2374T>A (p.Tyr792Asn) c.2347T>A (p.Tyr783Asn) n.2486T>A | |
X | g.50192340G>A | CA516679140 | AKAP4 | c.2373C>T (p.Leu791=) c.2346C>T (p.Leu782=) n.2485C>T | gnomAD v4 |
X | g.50192340G>C | CA516679141 | AKAP4 | c.2373C>G (p.Leu791=) c.2346C>G (p.Leu782=) n.2485C>G | gnomAD v4 |
X | g.50192340G>T | CA516679143 | AKAP4 | c.2373C>A (p.Leu791=) c.2346C>A (p.Leu782=) n.2485C>A | |
X | g.50192341A>C | CA413187284 | AKAP4 | c.2372T>G (p.Leu791Arg) c.2345T>G (p.Leu782Arg) n.2484T>G | |
X | g.50192341A>G | CA413187288 | AKAP4 | c.2372T>C (p.Leu791Pro) c.2345T>C (p.Leu782Pro) n.2484T>C | |
X | g.50192341A>T | CA413187286 | AKAP4 | c.2372T>A (p.Leu791His) c.2345T>A (p.Leu782His) n.2484T>A | |
X | g.50192342G>A | CA413187290 | AKAP4 | c.2371C>T (p.Leu791Phe) c.2344C>T (p.Leu782Phe) n.2483C>T | |
X | g.50192342G>C | CA413187292 | AKAP4 | c.2371C>G (p.Leu791Val) c.2344C>G (p.Leu782Val) n.2483C>G | |
X | g.50192342G>T | CA413187294 | AKAP4 | c.2371C>A (p.Leu791Ile) c.2344C>A (p.Leu782Ile) n.2483C>A | |
X | g.50192342_50192343del | CA2820861760 | AKAP4 | c.2370_2371del (p.Met790IlefsTer7) c.2343_2344del (p.Met781IlefsTer7) n.2482_2483del | |
X | g.50192343C>A | CA413187296 | AKAP4 | c.2370G>T (p.Met790Ile) c.2343G>T (p.Met781Ile) n.2482G>T | |
X | g.50192343C>G | CA413187298 | AKAP4 | c.2370G>C (p.Met790Ile) c.2343G>C (p.Met781Ile) n.2482G>C | |
X | g.50192343C>T | CA413187300 | AKAP4 | c.2370G>A (p.Met790Ile) c.2343G>A (p.Met781Ile) n.2482G>A | |
X | g.50192344A>C | CA413187303 | AKAP4 | c.2369T>G (p.Met790Arg) c.2342T>G (p.Met781Arg) n.2481T>G | |
X | g.50192344A>G | CA413187304 | AKAP4 | c.2369T>C (p.Met790Thr) c.2342T>C (p.Met781Thr) n.2481T>C | |
X | g.50192344A>T | CA413187307 | AKAP4 | c.2369T>A (p.Met790Lys) c.2342T>A (p.Met781Lys) n.2481T>A | |
X | g.50192345T>A | CA413187309 | AKAP4 | c.2368A>T (p.Met790Leu) c.2341A>T (p.Met781Leu) n.2480A>T | |
X | g.50192345T>C | CA413187311 | AKAP4 | c.2368A>G (p.Met790Val) c.2341A>G (p.Met781Val) n.2480A>G | |
X | g.50192345T>G | CA413187313 | AKAP4 | c.2368A>C (p.Met790Leu) c.2341A>C (p.Met781Leu) n.2480A>C | |
X | g.50192346G>A | CA10414116 | AKAP4 | c.2367C>T (p.Pro789=) c.2340C>T (p.Pro780=) n.2479C>T | dbSNP ExAC gnomAD v2 |
X | g.50192346G>C | CA516679157 | AKAP4 | c.2367C>G (p.Pro789=) c.2340C>G (p.Pro780=) n.2479C>G | dbSNP |
X | g.50192346G= | CA2428802717 | AKAP4 | c.2367C= (p.Pro789=) c.2340C= (p.Pro780=) n.2479C= | |
X | g.50192346G>T | CA516679156 | AKAP4 | c.2367C>A (p.Pro789=) c.2340C>A (p.Pro780=) n.2479C>A | |
X | g.50192347G>A | CA413187316 | AKAP4 | c.2366C>T (p.Pro789Leu) c.2339C>T (p.Pro780Leu) n.2478C>T | |
X | g.50192347G>C | CA413187318 | AKAP4 | c.2366C>G (p.Pro789Arg) c.2339C>G (p.Pro780Arg) n.2478C>G | |
X | g.50192347G>T | CA413187319 | AKAP4 | c.2366C>A (p.Pro789His) c.2339C>A (p.Pro780His) n.2478C>A | |
X | g.50192348G>A | CA413187322 | AKAP4 | c.2365C>T (p.Pro789Ser) c.2338C>T (p.Pro780Ser) n.2477C>T | |
X | g.50192348G>C | CA413187324 | AKAP4 | c.2365C>G (p.Pro789Ala) c.2338C>G (p.Pro780Ala) n.2477C>G | |
X | g.50192348G>T | CA413187325 | AKAP4 | c.2365C>A (p.Pro789Thr) c.2338C>A (p.Pro780Thr) n.2477C>A | |
X | g.50192349C>A | CA516679174 | AKAP4 | c.2364G>T (p.Val788=) c.2337G>T (p.Val779=) n.2476G>T | gnomAD v4 |
X | g.50192349C>G | CA516679175 | AKAP4 | c.2364G>C (p.Val788=) c.2337G>C (p.Val779=) n.2476G>C | |
X | g.50192349C>T | CA516679176 | AKAP4 | c.2364G>A (p.Val788=) c.2337G>A (p.Val779=) n.2476G>A | |
X | g.50192350A>C | CA413187328 | AKAP4 | c.2363T>G (p.Val788Gly) c.2336T>G (p.Val779Gly) n.2475T>G | |
X | g.50192350A>G | CA413187330 | AKAP4 | c.2363T>C (p.Val788Ala) c.2336T>C (p.Val779Ala) n.2475T>C | |
X | g.50192350A>T | CA413187332 | AKAP4 | c.2363T>A (p.Val788Glu) c.2336T>A (p.Val779Glu) n.2475T>A | |
X | g.50192351C>A | CA413187334 | AKAP4 | c.2362G>T (p.Val788Leu) c.2335G>T (p.Val779Leu) n.2474G>T | |
X | g.50192351C= | CA2428802718 | AKAP4 | c.2362G= (p.Val788=) c.2335G= (p.Val779=) n.2474G= | |
X | g.50192351C>G | CA413187336 | AKAP4 | c.2362G>C (p.Val788Leu) c.2335G>C (p.Val779Leu) n.2474G>C | |
X | g.50192351C>T | CA10414117 | AKAP4 | c.2362G>A (p.Val788Met) c.2335G>A (p.Val779Met) n.2474G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.50192352G>A | CA10414118 | AKAP4 | c.2361C>T (p.Asn787=) c.2334C>T (p.Asn778=) n.2473C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.50192352G>C | CA413187341 | AKAP4 | c.2361C>G (p.Asn787Lys) c.2334C>G (p.Asn778Lys) n.2473C>G | |
X | g.50192352G= | CA2428802719 | AKAP4 | c.2361C= (p.Asn787=) c.2334C= (p.Asn778=) n.2473C= | |
X | g.50192352G>T | CA413187339 | AKAP4 | c.2361C>A (p.Asn787Lys) c.2334C>A (p.Asn778Lys) n.2473C>A | |
X | g.50192353T>A | CA413187344 | AKAP4 | c.2360A>T (p.Asn787Ile) c.2333A>T (p.Asn778Ile) n.2472A>T | |
X | g.50192353T>C | CA413187345 | AKAP4 | c.2360A>G (p.Asn787Ser) c.2333A>G (p.Asn778Ser) n.2472A>G | |
X | g.50192353T>G | CA413187347 | AKAP4 | c.2360A>C (p.Asn787Thr) c.2333A>C (p.Asn778Thr) n.2472A>C | |
X | g.50192354T>A | CA413187350 | AKAP4 | c.2359A>T (p.Asn787Tyr) c.2332A>T (p.Asn778Tyr) n.2471A>T | |
X | g.50192354T>C | CA413187351 | AKAP4 | c.2359A>G (p.Asn787Asp) c.2332A>G (p.Asn778Asp) n.2471A>G | |
X | g.50192354T>G | CA413187353 | AKAP4 | c.2359A>C (p.Asn787His) c.2332A>C (p.Asn778His) n.2471A>C | |
X | g.50192355A>C | CA413187355 | AKAP4 | c.2358T>G (p.Phe786Leu) c.2331T>G (p.Phe777Leu) n.2470T>G | |
X | g.50192355A>G | CA516679215 | AKAP4 | c.2358T>C (p.Phe786=) c.2331T>C (p.Phe777=) n.2470T>C | |
X | g.50192355A>T | CA413187357 | AKAP4 | c.2358T>A (p.Phe786Leu) c.2331T>A (p.Phe777Leu) n.2470T>A | |
X | g.50192356A>C | CA413187360 | AKAP4 | c.2357T>G (p.Phe786Cys) c.2330T>G (p.Phe777Cys) n.2469T>G | |
X | g.50192356A>G | CA413187362 | AKAP4 | c.2357T>C (p.Phe786Ser) c.2330T>C (p.Phe777Ser) n.2469T>C | |
X | g.50192356A>T | CA413187363 | AKAP4 | c.2357T>A (p.Phe786Tyr) c.2330T>A (p.Phe777Tyr) n.2469T>A | |
X | g.50192357A= | CA2428802720 | AKAP4 | c.2356T= (p.Phe786=) c.2329T= (p.Phe777=) n.2468T= | |
X | g.50192357A>C | CA413187365 | AKAP4 | c.2356T>G (p.Phe786Val) c.2329T>G (p.Phe777Val) n.2468T>G | |
X | g.50192357A>G | CA10414119 | AKAP4 | c.2356T>C (p.Phe786Leu) c.2329T>C (p.Phe777Leu) n.2468T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.50192357A>T | CA413187368 | AKAP4 | c.2356T>A (p.Phe786Ile) c.2329T>A (p.Phe777Ile) n.2468T>A | |
X | g.50192358C>A | CA10414120 | AKAP4 | c.2355G>T (p.Gln785His) c.2328G>T (p.Gln776His) n.2467G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.50192358C= | CA2428802721 | AKAP4 | c.2355G= (p.Gln785=) c.2328G= (p.Gln776=) n.2467G= | |
X | g.50192358C>G | CA413187371 | AKAP4 | c.2355G>C (p.Gln785His) c.2328G>C (p.Gln776His) n.2467G>C | |
X | g.50192358C>T | CA516679234 | AKAP4 | c.2355G>A (p.Gln785=) c.2328G>A (p.Gln776=) n.2467G>A | |
X | g.50192359T>A | CA413187373 | AKAP4 | c.2354A>T (p.Gln785Leu) c.2327A>T (p.Gln776Leu) n.2466A>T | |
X | g.50192359T>C | CA413187375 | AKAP4 | c.2354A>G (p.Gln785Arg) c.2327A>G (p.Gln776Arg) n.2466A>G | gnomAD v4 |
X | g.50192359T>G | CA413187377 | AKAP4 | c.2354A>C (p.Gln785Pro) c.2327A>C (p.Gln776Pro) n.2466A>C | |
X | g.50192360G>A | CA413187379 | AKAP4 | c.2353C>T (p.Gln785Ter) c.2326C>T (p.Gln776Ter) n.2465C>T | |
X | g.50192360G>C | CA413187381 | AKAP4 | c.2353C>G (p.Gln785Glu) c.2326C>G (p.Gln776Glu) n.2465C>G | |
X | g.50192360G>T | CA413187383 | AKAP4 | c.2353C>A (p.Gln785Lys) c.2326C>A (p.Gln776Lys) n.2465C>A | gnomAD v4 |
X | g.50192361G>A | CA10414121 | AKAP4 | c.2352C>T (p.Ser784=) c.2325C>T (p.Ser775=) n.2464C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.50192361G>C | CA516679250 | AKAP4 | c.2352C>G (p.Ser784=) c.2325C>G (p.Ser775=) n.2464C>G | dbSNP |
X | g.50192361G= | CA2428802722 | AKAP4 | c.2352C= (p.Ser784=) c.2325C= (p.Ser775=) n.2464C= | |
X | g.50192361G>T | CA516679254 | AKAP4 | c.2352C>A (p.Ser784=) c.2325C>A (p.Ser775=) n.2464C>A | |
X | g.50192362G>A | CA413187386 | AKAP4 | c.2351C>T (p.Ser784Phe) c.2324C>T (p.Ser775Phe) n.2463C>T | |
X | g.50192362G>C | CA413187388 | AKAP4 | c.2351C>G (p.Ser784Cys) c.2324C>G (p.Ser775Cys) n.2463C>G | |
X | g.50192362G>T | CA413187390 | AKAP4 | c.2351C>A (p.Ser784Tyr) c.2324C>A (p.Ser775Tyr) n.2463C>A | |
X | g.50192363A>C | CA413187392 | AKAP4 | c.2350T>G (p.Ser784Ala) c.2323T>G (p.Ser775Ala) n.2462T>G | |
X | g.50192363A>G | CA413187394 | AKAP4 | c.2350T>C (p.Ser784Pro) c.2323T>C (p.Ser775Pro) n.2462T>C | gnomAD v4 |
X | g.50192363A>T | CA413187396 | AKAP4 | c.2350T>A (p.Ser784Thr) c.2323T>A (p.Ser775Thr) n.2462T>A | |
X | g.50192364G>A | CA516679265 | AKAP4 | c.2349C>T (p.Ala783=) c.2322C>T (p.Ala774=) n.2461C>T | |
X | g.50192364G>C | CA516679271 | AKAP4 | c.2349C>G (p.Ala783=) c.2322C>G (p.Ala774=) n.2461C>G | |
X | g.50192364G>T | CA516679273 | AKAP4 | c.2349C>A (p.Ala783=) c.2322C>A (p.Ala774=) n.2461C>A | COSMIC |
X | g.50192365G>A | CA413187401 | AKAP4 | c.2348C>T (p.Ala783Val) c.2321C>T (p.Ala774Val) n.2460C>T | dbSNP |
X | g.50192365G>C | CA413187400 | AKAP4 | c.2348C>G (p.Ala783Gly) c.2321C>G (p.Ala774Gly) n.2460C>G | |
X | g.50192365G= | CA2428802723 | AKAP4 | c.2348C= (p.Ala783=) c.2321C= (p.Ala774=) n.2460C= | |
X | g.50192365G>T | CA413187398 | AKAP4 | c.2348C>A (p.Ala783Asp) c.2321C>A (p.Ala774Asp) n.2460C>A | |
X | g.50192366C>A | CA413187405 | AKAP4 | c.2347G>T (p.Ala783Ser) c.2320G>T (p.Ala774Ser) n.2459G>T | |
X | g.50192366C>G | CA413187403 | AKAP4 | c.2347G>C (p.Ala783Pro) c.2320G>C (p.Ala774Pro) n.2459G>C | |
X | g.50192366C>T | CA413187407 | AKAP4 | c.2347G>A (p.Ala783Thr) c.2320G>A (p.Ala774Thr) n.2459G>A | |
X | g.50192367T>A | CA516679285 | AKAP4 | c.2346A>T (p.Ala782=) c.2319A>T (p.Ala773=) n.2458A>T | |
X | g.50192367T>C | CA516679286 | AKAP4 | c.2346A>G (p.Ala782=) c.2319A>G (p.Ala773=) n.2458A>G | |
X | g.50192367T>G | CA516679287 | AKAP4 | c.2346A>C (p.Ala782=) c.2319A>C (p.Ala773=) n.2458A>C | |
X | g.50192368G>A | CA413187409 | AKAP4 | c.2345C>T (p.Ala782Val) c.2318C>T (p.Ala773Val) n.2457C>T | gnomAD v4 |
X | g.50192368G>C | CA413187412 | AKAP4 | c.2345C>G (p.Ala782Gly) c.2318C>G (p.Ala773Gly) n.2457C>G | |
X | g.50192368G= | CA2428802724 | AKAP4 | c.2345C= (p.Ala782=) c.2318C= (p.Ala773=) n.2457C= | |
X | g.50192368G>T | CA10414122 | AKAP4 | c.2345C>A (p.Ala782Glu) c.2318C>A (p.Ala773Glu) n.2457C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.50192369C>A | CA413187414 | AKAP4 | c.2344G>T (p.Ala782Ser) c.2317G>T (p.Ala773Ser) n.2456G>T | |
X | g.50192369C>G | CA413187416 | AKAP4 | c.2344G>C (p.Ala782Pro) c.2317G>C (p.Ala773Pro) n.2456G>C | |
X | g.50192369C>T | CA413187418 | AKAP4 | c.2344G>A (p.Ala782Thr) c.2317G>A (p.Ala773Thr) n.2456G>A | |
X | g.50192370A>C | CA413187420 | AKAP4 | c.2343T>G (p.Ile781Met) c.2316T>G (p.Ile772Met) n.2455T>G | |
X | g.50192370A>G | CA516679293 | AKAP4 | c.2343T>C (p.Ile781=) c.2316T>C (p.Ile772=) n.2455T>C | |
X | g.50192370A>T | CA516679295 | AKAP4 | c.2343T>A (p.Ile781=) c.2316T>A (p.Ile772=) n.2455T>A | |
X | g.50192371A>C | CA413187423 | AKAP4 | c.2342T>G (p.Ile781Ser) c.2315T>G (p.Ile772Ser) n.2454T>G | |
X | g.50192371A>G | CA413187425 | AKAP4 | c.2342T>C (p.Ile781Thr) c.2315T>C (p.Ile772Thr) n.2454T>C | |
X | g.50192371A>T | CA413187427 | AKAP4 | c.2342T>A (p.Ile781Asn) c.2315T>A (p.Ile772Asn) n.2454T>A | |
X | g.50192372T>A | CA413187429 | AKAP4 | c.2341A>T (p.Ile781Phe) c.2314A>T (p.Ile772Phe) n.2453A>T | |
X | g.50192372T>C | CA413187431 | AKAP4 | c.2341A>G (p.Ile781Val) c.2314A>G (p.Ile772Val) n.2453A>G | |
X | g.50192372T>G | CA413187433 | AKAP4 | c.2341A>C (p.Ile781Leu) c.2314A>C (p.Ile772Leu) n.2453A>C | |
X | g.50192373C>A | CA413187439 | AKAP4 | c.2340G>T (p.Trp780Cys) c.2313G>T (p.Trp771Cys) n.2452G>T | |
X | g.50192373C>G | CA413187437 | AKAP4 | c.2340G>C (p.Trp780Cys) c.2313G>C (p.Trp771Cys) n.2452G>C | |
X | g.50192373C>T | CA413187435 | AKAP4 | c.2340G>A (p.Trp780Ter) c.2313G>A (p.Trp771Ter) n.2452G>A | |
X | g.50192374C>A | CA413187441 | AKAP4 | c.2339G>T (p.Trp780Leu) c.2312G>T (p.Trp771Leu) n.2451G>T | gnomAD v4 |
X | g.50192374C>G | CA413187443 | AKAP4 | c.2339G>C (p.Trp780Ser) c.2312G>C (p.Trp771Ser) n.2451G>C | |
X | g.50192374C>T | CA413187445 | AKAP4 | c.2339G>A (p.Trp780Ter) c.2312G>A (p.Trp771Ter) n.2451G>A | |
X | g.50192375A>C | CA413187447 | AKAP4 | c.2338T>G (p.Trp780Gly) c.2311T>G (p.Trp771Gly) n.2450T>G | |
X | g.50192375A>G | CA413187449 | AKAP4 | c.2338T>C (p.Trp780Arg) c.2311T>C (p.Trp771Arg) n.2450T>C | |
X | g.50192375A>T | CA413187451 | AKAP4 | c.2338T>A (p.Trp780Arg) c.2311T>A (p.Trp771Arg) n.2450T>A | |
X | g.50192376C>A | CA413187452 | AKAP4 | c.2337G>T (p.Gln779His) c.2310G>T (p.Gln770His) n.2449G>T | |
X | g.50192376C>G | CA413187453 | AKAP4 | c.2337G>C (p.Gln779His) c.2310G>C (p.Gln770His) n.2449G>C | |
X | g.50192376C>T | CA516679320 | AKAP4 | c.2337G>A (p.Gln779=) c.2310G>A (p.Gln770=) n.2449G>A | |
X | g.50192377T>A | CA413187454 | AKAP4 | c.2336A>T (p.Gln779Leu) c.2309A>T (p.Gln770Leu) n.2448A>T | |
X | g.50192377T>C | CA413187455 | AKAP4 | c.2336A>G (p.Gln779Arg) c.2309A>G (p.Gln770Arg) n.2448A>G | gnomAD v4 |
X | g.50192377T>G | CA413187456 | AKAP4 | c.2336A>C (p.Gln779Pro) c.2309A>C (p.Gln770Pro) n.2448A>C | |
X | g.50192378G>A | CA413187458 | AKAP4 | c.2335C>T (p.Gln779Ter) c.2308C>T (p.Gln770Ter) n.2447C>T | |
X | g.50192378G>C | CA413187459 | AKAP4 | c.2335C>G (p.Gln779Glu) c.2308C>G (p.Gln770Glu) n.2447C>G | |
X | g.50192378G>T | CA413187457 | AKAP4 | c.2335C>A (p.Gln779Lys) c.2308C>A (p.Gln770Lys) n.2447C>A | |
X | g.50192379C>A | CA329787848 | AKAP4 | c.2334G>T (p.Leu778=) c.2307G>T (p.Leu769=) n.2446G>T | dbSNP |
X | g.50192379C= | CA2428802725 | AKAP4 | c.2334G= (p.Leu778=) c.2307G= (p.Leu769=) n.2446G= | |
X | g.50192379C>G | CA516679335 | AKAP4 | c.2334G>C (p.Leu778=) c.2307G>C (p.Leu769=) n.2446G>C | |
X | g.50192379C>T | CA516679336 | AKAP4 | c.2334G>A (p.Leu778=) c.2307G>A (p.Leu769=) n.2446G>A | gnomAD v3 gnomAD v4 |
X | g.50192380A>C | CA413187460 | AKAP4 | c.2333T>G (p.Leu778Arg) c.2306T>G (p.Leu769Arg) n.2445T>G | |
X | g.50192380A>G | CA413187461 | AKAP4 | c.2333T>C (p.Leu778Pro) c.2306T>C (p.Leu769Pro) n.2445T>C | |
X | g.50192380A>T | CA413187462 | AKAP4 | c.2333T>A (p.Leu778Gln) c.2306T>A (p.Leu769Gln) n.2445T>A | |
X | g.50192381G>A | CA516679338 | AKAP4 | c.2332C>T (p.Leu778=) c.2305C>T (p.Leu769=) n.2444C>T | |
X | g.50192381G>C | CA413187463 | AKAP4 | c.2332C>G (p.Leu778Val) c.2305C>G (p.Leu769Val) n.2444C>G | |
X | g.50192381G>T | CA413187464 | AKAP4 | c.2332C>A (p.Leu778Met) c.2305C>A (p.Leu769Met) n.2444C>A | |
X | g.50192382G>A | CA516679345 | AKAP4 | c.2331C>T (p.Val777=) c.2304C>T (p.Val768=) n.2443C>T | dbSNP |
X | g.50192382G>C | CA516679346 | AKAP4 | c.2331C>G (p.Val777=) c.2304C>G (p.Val768=) n.2443C>G | |
X | g.50192382G= | CA2428802726 | AKAP4 | c.2331C= (p.Val777=) c.2304C= (p.Val768=) n.2443C= | |
X | g.50192382G>T | CA516679347 | AKAP4 | c.2331C>A (p.Val777=) c.2304C>A (p.Val768=) n.2443C>A | gnomAD v4 |
X | g.50192383A>C | CA413187465 | AKAP4 | c.2330T>G (p.Val777Gly) c.2303T>G (p.Val768Gly) n.2442T>G | |
X | g.50192383A>G | CA413187466 | AKAP4 | c.2330T>C (p.Val777Ala) c.2303T>C (p.Val768Ala) n.2442T>C | |
X | g.50192383A>T | CA413187467 | AKAP4 | c.2330T>A (p.Val777Asp) c.2303T>A (p.Val768Asp) n.2442T>A | |
X | g.50192384C>A | CA413187468 | AKAP4 | c.2329G>T (p.Val777Phe) c.2302G>T (p.Val768Phe) n.2441G>T | |
X | g.50192384C>G | CA413187469 | AKAP4 | c.2329G>C (p.Val777Leu) c.2302G>C (p.Val768Leu) n.2441G>C | gnomAD v4 |
X | g.50192384C>T | CA413187470 | AKAP4 | c.2329G>A (p.Val777Ile) c.2302G>A (p.Val768Ile) n.2441G>A | |
X | g.50192385A>C | CA516679361 | AKAP4 | c.2328T>G (p.Ala776=) c.2301T>G (p.Ala767=) n.2440T>G | |
X | g.50192385A>G | CA516679356 | AKAP4 | c.2328T>C (p.Ala776=) c.2301T>C (p.Ala767=) n.2440T>C | |
X | g.50192385A>T | CA516679359 | AKAP4 | c.2328T>A (p.Ala776=) c.2301T>A (p.Ala767=) n.2440T>A | |
X | g.50192386G>A | CA413187472 | AKAP4 | c.2327C>T (p.Ala776Val) c.2300C>T (p.Ala767Val) n.2439C>T | |
X | g.50192386G>C | CA413187473 | AKAP4 | c.2327C>G (p.Ala776Gly) c.2300C>G (p.Ala767Gly) n.2439C>G | |
X | g.50192386G>T | CA413187471 | AKAP4 | c.2327C>A (p.Ala776Asp) c.2300C>A (p.Ala767Asp) n.2439C>A | |
X | g.50192387C>A | CA413187474 | AKAP4 | c.2326G>T (p.Ala776Ser) c.2299G>T (p.Ala767Ser) n.2438G>T | |
X | g.50192387C= | CA2428802727 | AKAP4 | c.2326G= (p.Ala776=) c.2299G= (p.Ala767=) n.2438G= | |
X | g.50192387C>G | CA413187475 | AKAP4 | c.2326G>C (p.Ala776Pro) c.2299G>C (p.Ala767Pro) n.2438G>C | |
X | g.50192387C>T | CA413187476 | AKAP4 | c.2326G>A (p.Ala776Thr) c.2299G>A (p.Ala767Thr) n.2438G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.50192388C>A | CA413187477 | AKAP4 | c.2325G>T (p.Gln775His) c.2298G>T (p.Gln766His) n.2437G>T | |
X | g.50192388C>G | CA413187478 | AKAP4 | c.2325G>C (p.Gln775His) c.2298G>C (p.Gln766His) n.2437G>C | |
X | g.50192388C>T | CA516679376 | AKAP4 | c.2325G>A (p.Gln775=) c.2298G>A (p.Gln766=) n.2437G>A | |
X | g.50192389T>A | CA413187481 | AKAP4 | c.2324A>T (p.Gln775Leu) c.2297A>T (p.Gln766Leu) n.2436A>T | |
X | g.50192389T>C | CA413187479 | AKAP4 | c.2324A>G (p.Gln775Arg) c.2297A>G (p.Gln766Arg) n.2436A>G | |
X | g.50192389T>G | CA413187480 | AKAP4 | c.2324A>C (p.Gln775Pro) c.2297A>C (p.Gln766Pro) n.2436A>C | |
X | g.50192390G>A | CA413187482 | AKAP4 | c.2323C>T (p.Gln775Ter) c.2296C>T (p.Gln766Ter) n.2435C>T | gnomAD v4 |
X | g.50192390G>C | CA413187483 | AKAP4 | c.2323C>G (p.Gln775Glu) c.2296C>G (p.Gln766Glu) n.2435C>G | |
X | g.50192390G>T | CA413187484 | AKAP4 | c.2323C>A (p.Gln775Lys) c.2296C>A (p.Gln766Lys) n.2435C>A | |
X | g.50192391G>A | CA516679387 | AKAP4 | c.2322C>T (p.Leu774=) c.2295C>T (p.Leu765=) n.2434C>T | |
X | g.50192391G>C | CA516679386 | AKAP4 | c.2322C>G (p.Leu774=) c.2295C>G (p.Leu765=) n.2434C>G | |
X | g.50192391G>T | CA516679388 | AKAP4 | c.2322C>A (p.Leu774=) c.2295C>A (p.Leu765=) n.2434C>A | |
X | g.50192392A>C | CA413187485 | AKAP4 | c.2321T>G (p.Leu774Arg) c.2294T>G (p.Leu765Arg) n.2433T>G | |
X | g.50192392A>G | CA413187486 | AKAP4 | c.2321T>C (p.Leu774Pro) c.2294T>C (p.Leu765Pro) n.2433T>C | |
X | g.50192392A>T | CA413187487 | AKAP4 | c.2321T>A (p.Leu774His) c.2294T>A (p.Leu765His) n.2433T>A | |
X | g.50192393G>A | CA413187489 | AKAP4 | c.2320C>T (p.Leu774Phe) c.2293C>T (p.Leu765Phe) n.2432C>T | |
X | g.50192393G>C | CA413187490 | AKAP4 | c.2320C>G (p.Leu774Val) c.2293C>G (p.Leu765Val) n.2432C>G | |
X | g.50192393G>T | CA413187488 | AKAP4 | c.2320C>A (p.Leu774Ile) c.2293C>A (p.Leu765Ile) n.2432C>A | |
X | g.50192394C>A | CA413187492 | AKAP4 | c.2319G>T (p.Gln773His) c.2292G>T (p.Gln764His) n.2431G>T | |
X | g.50192394C>G | CA413187491 | AKAP4 | c.2319G>C (p.Gln773His) c.2292G>C (p.Gln764His) n.2431G>C | |
X | g.50192394C>T | CA516679411 | AKAP4 | c.2319G>A (p.Gln773=) c.2292G>A (p.Gln764=) n.2431G>A | |
X | g.50192395T>A | CA413187493 | AKAP4 | c.2318A>T (p.Gln773Leu) c.2291A>T (p.Gln764Leu) n.2430A>T | |
X | g.50192395T>C | CA413187494 | AKAP4 | c.2318A>G (p.Gln773Arg) c.2291A>G (p.Gln764Arg) n.2430A>G | |
X | g.50192395T>G | CA413187495 | AKAP4 | c.2318A>C (p.Gln773Pro) c.2291A>C (p.Gln764Pro) n.2430A>C | |
X | g.50192396G>A | CA413187496 | AKAP4 | c.2317C>T (p.Gln773Ter) c.2290C>T (p.Gln764Ter) n.2429C>T | |
X | g.50192396G>C | CA329787849 | AKAP4 | c.2317C>G (p.Gln773Glu) c.2290C>G (p.Gln764Glu) n.2429C>G | dbSNP |
X | g.50192396G= | CA2428802728 | AKAP4 | c.2317C= (p.Gln773=) c.2290C= (p.Gln764=) n.2429C= | |
X | g.50192396G>T | CA413187497 | AKAP4 | c.2317C>A (p.Gln773Lys) c.2290C>A (p.Gln764Lys) n.2429C>A | COSMIC |
X | g.50192397C>A | CA413187498 | AKAP4 | c.2316G>T (p.Lys772Asn) c.2289G>T (p.Lys763Asn) n.2428G>T | |
X | g.50192397C>G | CA413187499 | AKAP4 | c.2316G>C (p.Lys772Asn) c.2289G>C (p.Lys763Asn) n.2428G>C | |
X | g.50192397C>T | CA516679425 | AKAP4 | c.2316G>A (p.Lys772=) c.2289G>A (p.Lys763=) n.2428G>A |